Bonnard Arnaud, Zeidan Smart, Degas Vanessa, Viala Jérome, Baumann Clarisse, Berrebi Dominique, Perrusson Odile, El Ghoneimi Alaa
Department of Pediatric Surgery, Robert Debre Hospital and Paris VII University, EA3102, APHP, 75019 Paris, France.
J Pediatr Surg. 2009 Mar;44(3):587-91. doi: 10.1016/j.jpedsurg.2008.10.066.
Mowat-Wilson syndrome (MWS) is a developmental disorder presenting with mental retardation, delayed motor development, and a wide spectrum of clinical features. Hirschsprung's disease (HD) is associated in almost 50% of cases. This report aims to analyze the course of HD and to evaluate the clinical outcomes of these patients.
Between 1997 and 2007, 110 patients presenting with HD were diagnosed and managed in our institution. Five of them presented the association of HD and MWS. Their records were reviewed retrospectively.
All of the 5 patients have a genetic disorder specific of MWS (nonsense mutation or deletion on SIP1 gene, locus 2q22). Two patients underwent transanal endorectal pull-through procedure for classic rectosigmoid HD. Three patients were operated on for total colonic aganglionosis using Duhamel procedure. The median follow-up was 4 (range, 0.3-7) years. Only one patient is doing well (rectosigmoid HD). Two patients have a stoma diversion for severe motility disorders. Of the 3 total colonic aganglionosis, one still has repeated episodes of obstruction requiring total parenteral nutrition (TPN). The 2 others still have repeated episodes of enterocolitis. All patients required a prolonged TPN (32.5 months in average).
Hirschsprung's disease associated with MWS is a severe condition. Even in case of short segment HD, patients can present motility disorder requiring a prolonged TPN. Physician and surgeon should be aware about the evolution of this rare condition.
莫瓦特-威尔逊综合征（MWS）是一种发育障碍，表现为智力发育迟缓、运动发育延迟以及一系列广泛的临床特征。近50%的病例与先天性巨结肠（HD）相关。本报告旨在分析HD的病程并评估这些患者的临床结局。
1997年至2007年间，110例HD患者在我们机构被诊断并接受治疗。其中5例同时患有HD和MWS。对他们的记录进行了回顾性分析。
所有5例患者均患有MWS特有的遗传性疾病（SIP1基因第2q22位点的无义突变或缺失）。2例因典型的直肠乙状结肠HD接受了经肛门直肠拖出术。3例因全结肠无神经节细胞症采用杜哈梅尔手术进行了治疗。中位随访时间为4年（范围0.3 - 7年）。只有1例患者情况良好（直肠乙状结肠HD）。2例因严重的动力障碍进行了造口转流术。在3例全结肠无神经节细胞症患者中，1例仍反复出现梗阻发作，需要全胃肠外营养（TPN）。另外2例仍反复出现小肠结肠炎。所有患者均需要长期TPN（平均32.5个月）。
与MWS相关的先天性巨结肠是一种严重疾病。即使是短节段HD患者，也可能出现需要长期TPN的动力障碍。医生和外科医生应了解这种罕见疾病的病情发展。
